Friday, August 15, 2014

Discovery Of A Gene Mutation Responsible For Subvalvurar Aortic Stenosis (SAS) In Newfundland Dogs

Researchers at the University of California, Davis, have identified a gene mutation behind subvalvular aortic stenosis (SAS), a potentially deadly condition in Newfoundland dogs.

SAS is one of the most common congenital heart defects in dogs and is an inherited defect of Newfoundlands and Golden Retrievers.

In dogs with this condition, abnormal tissue forms below the aorta, resulting in narrowing (stenosis) and restricting blood flow which can cause sudden death. Surgery cannot correct this problem in dogs.

This discovery might have the potential to screen for this mutation and gradually eliminating it  through responsible breeding. It can also lead to discovery of novel therapies.

Source article:
Mutant Gene Spurs Dangerous Heart Condition in Newfoundland Dogs: Study

Further reading:
A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs.

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